A study of Wilson's disease gene encoded products and gene mutations
10.3760/j.issn:1003-9406.2001.03.001
- VernacularTitle:肝豆状核变性基因表达产物及基因突变的研究
- Author:
Guoqing HOU
1
;
Xiuling LIANG
;
Rong CHEN
;
Chunshui YANG
;
Fan HUANG
;
Zhenwen YAN
;
Pingyi XU
;
Ying WANG
Author Information
1. Guangzhou First Municipal Hospital Guangzhou Medical College
- From:
Chinese Journal of Medical Genetics
2001;18(3):165-168
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the pathogenesis of Wilson's disease(WD). Methods Hepatocytes were isolated from WD patients' bioptic hepatic samples and cultured in vitro; WD proteins, the gene putative encoded products, were detected by SDS-PAGE in conjunction with Western blotting in liver samples of three patients and two controls. Their genomic DNAs were analyzed by means of direct DNA sequencing of WD gene (ATP7B) on exon 8. Results The WD proteins lanes from two WD patients were found to be much weaker than that from the control, from which one WD patient was proven as heterozygote of 778 position CGG→CTG(Arg778Leu) and 770 position CTC→CTG change of ATP7B. Conclusion WD is highly heterogeneous in clinical manifestations and inheritance pattern. Abnormally expressed putative WD proteins in WD patients might be the results of ATP7B mutations, and the study of ATP7B products would help to probe into the pathogenesis of WD.
